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Items: 1 to 20 of 157

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7098951delins1nstd102humanUncertain significance GRCh38 chr12: 49,041,331-49,041,383 , GRCh37 chr12: 49,435,114-49,435,166 KMT2D
    nsv7093311copy number variation1nstd102humanUncertain significance GRCh38 chr12: 49,052,262-49,052,263 , GRCh37 chr12: 49,446,045-49,446,046 KMT2D
    nsv7093186copy number variation1nstd102humanUncertain significance GRCh37 chr12: 49,444,943-49,444,996 , GRCh38 chr12: 49,051,160-49,051,213 KMT2D
    nsv7093184copy number variation1nstd102humanUncertain significance GRCh37 chr12: 49,445,685-49,445,846 , GRCh38 chr12: 49,051,902-49,052,063 KMT2D
    nsv7093108copy number variation1nstd102humanLikely benign GRCh38 chr12: 49,051,366-49,051,419 , GRCh37 chr12: 49,445,149-49,445,202 KMT2D
    nsv7093036copy number variation1nstd102humanUncertain significance GRCh37 chr12: 49,426,607-49,426,711 , GRCh38 chr12: 49,032,824-49,032,928 KMT2D
    nsv6924398copy number variation1nstd229human GRCh38 chr12: 49,028,303-49,028,649 , GRCh37.p13 chr12: 49,422,086-49,422,432 KMT2D
    nsv6314832copy number variation1nstd102humanLikely pathogenic GRCh37 chr12: 49,426,663-49,426,722 , GRCh38 chr12: 49,032,880-49,032,939 KMT2D
    nsv6309394copy number variation1nstd102humanUncertain significance GRCh38 chr12: 49,051,416-49,051,487 , GRCh37 chr12: 49,445,199-49,445,270 KMT2D
    nsv6309271copy number variation1nstd102humanUncertain significance GRCh37 chr12: 49,443,445-49,449,107 , GRCh38.p12 chr12: 49,049,662-49,055,324 KMT2D
    nsv6309243copy number variation1nstd102humanUncertain significance GRCh38 chr12: 49,051,352-49,051,405 , GRCh37 chr12: 49,445,135-49,445,188 KMT2D
    nsv6290352delins1nstd102humanUncertain significance GRCh38 chr12: 49,051,187-49,051,244 , GRCh37 chr12: 49,444,970-49,445,027 KMT2D
    nsv6201727copy number variation1nstd214human GRCh38 chr12: 49,051,097-49,051,150 , GRCh37.p13 chr12: 49,444,880-49,444,933 KMT2D
    nsv6193479copy number variation1nstd214human GRCh38 chr12: 49,051,589-49,051,642 , GRCh37.p13 chr12: 49,445,372-49,445,425 KMT2D
    nsv6143026copy number variation1nstd206human GRCh38 chr12: 48,500,915-111,724,058 , GRCh37.p13 chr12: 48,894,698-112,161,862 , LINC00592, 1206 more genes
    nsv6132250copy number variation1nstd213human GRCh37 chr12: 49,440,000-51,850,001 , GRCh38.p12 chr12: 49,046,217-51,456,217 DAZAP2, KCNH3, 83 more genes
    nsv5866763copy number variation1nstd209human GRCh38 chr12: 49,030,453-49,033,035 , GRCh37.p13 chr12: 49,424,236-49,426,818 KMT2D
    nsv5564512copy number variation1nstd102humanLikely pathogenic GRCh37 chr12: 37,873,948-49,578,619 , GRCh38.p12 chr12: 37,480,146-49,184,836 ADCY6, ABCD2, 187 more genes
    nsv5040224inversion1nstd200human GRCh38 chr12: 47,213,128-71,357,206 , GRCh37.p13 chr12: 47,606,911-71,750,986 , NR4A1, 686 more genes
    nsv4847410copy number variation1nstd200human GRCh37 chr12: 49,445,120-49,445,202 , GRCh38.p12 chr12: 49,051,337-49,051,419 KMT2D
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